Abstract
Wilms tumor (WT), the most common cancer of the kidney in infants and children, has a complex etiology that is still poorly understood. Identification of genomic copy number variants (CNV) in tumor genomes provides a better understanding of cancer development which may be useful for diagnosis and therapeutic targets. In paired blood and tumor DNA samples from 14 patients with sporadic WT, analyzed by aCGH, 22% of chromosome abnormalities were novel. All constitutional alterations identified in blood were segmental (in 28.6% of patients) and were also present in the paired tumor samples. Two segmental gains (2p21 and 20q13.3) and one loss (19q13.31) present in blood had not been previously described in WT. We also describe, for the first time, a small, constitutive partial gain of 3p22.1 comprising 2 exons of CTNNB1, a gene associated to WT. Among somatic alterations, novel structural chromosomal abnormalities were found, like gain of 19p13.3 and 20p12.3, and losses of 2p16.1-p15, 4q32.5-q35.1, 4q35.2-q28.1 and 19p13.3. Candidate genes included in these regions might be constitutively (SIX3, SALL4) or somatically (NEK1, PIAS4, BMP2) operational in the development and progression of WT. To our knowledge this is the first report of CNV in paired blood and tumor samples in sporadic WT.
Highlights
Wilms tumor (WT) is the most common cancer of the kidney in infants and children, accounting for 6 to 7% of all children neoplasms, with a prevalence of 1:10.000 affected individuals [1, 2]
WT has a complex etiology with genetic, constitutional and somatic factors playing dissimilar roles in its genesis and progression. This results in extensive genomic alterations including copy number variants (CNV) that may include oncogenes or tumor suppressor genes leading to dose-dependent, functional disruptions of gene expression
We report molecular studies in paired, blood and tumor samples from 14 patients with sporadic WT, with the aim of identifying germline and somatic anomalies associated with this tumor
Summary
Wilms tumor (WT) is the most common cancer of the kidney in infants and children, accounting for 6 to 7% of all children neoplasms, with a prevalence of 1:10.000 affected individuals [1, 2]. We report molecular studies in paired, blood and tumor samples from 14 patients with sporadic WT, with the aim of identifying germline and somatic anomalies associated with this tumor.
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